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    SAG S-antigen; retina and pineal gland (arrestin) [ Homo sapiens (human) ]

    Gene ID: 6295, updated on 15-Jun-2016
    Official Symbol
    SAGprovided by HGNC
    Official Full Name
    S-antigen; retina and pineal gland (arrestin)provided by HGNC
    Primary source
    HGNC:HGNC:10521
    See related
    Ensembl:ENSG00000130561 HPRD:01625; MIM:181031; Vega:OTTHUMG00000153213
    Gene type
    protein coding
    RefSeq status
    REVIEWED
    Organism
    Homo sapiens
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
    Also known as
    RP47; S-AG
    Summary
    Members of arrestin/beta-arrestin protein family are thought to participate in agonist-mediated desensitization of G-protein-coupled receptors and cause specific dampening of cellular responses to stimuli such as hormones, neurotransmitters, or sensory signals. S-arrestin, also known as S-antigen, is a major soluble photoreceptor protein that is involved in desensitization of the photoactivated transduction cascade. It is expressed in the retina and the pineal gland and inhibits coupling of rhodopsin to transducin in vitro. Additionally, S-arrestin is highly antigenic, and is capable of inducing experimental autoimmune uveoretinitis. Mutations in this gene have been associated with Oguchi disease, a rare autosomal recessive form of night blindness. [provided by RefSeq, Jul 2008]
    Orthologs
    Location:
    2q37.1
    Exon count:
    20
    Annotation release Status Assembly Chr Location
    108 current GRCh38.p7 (GCF_000001405.33) 2 NC_000002.12 (233307663..233347066)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (234216309..234255701)

    Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene autophagy related 16 like 1 Neighboring gene small Cajal body-specific RNA 5 Neighboring gene small Cajal body-specific RNA 6 Neighboring gene diacylglycerol kinase delta Neighboring gene ubiquitin specific peptidase 40 Neighboring gene protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1 pseudogene

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    Associated conditions

    Description Tests
    Oguchi's disease
    MedGen: C1306122 OMIM: 258100 GeneReviews: Not available
    Compare labs
    Retinitis pigmentosa 47
    MedGen: C3151061 OMIM: 613758 GeneReviews: Retinitis Pigmentosa Overview
    Compare labs

    NHGRI GWAS Catalog

    Description
    A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci.
    NHGRI GWA Catalog
    Common variants in the calcium-sensing receptor gene are associated with total serum calcium levels.
    NHGRI GWA Catalog
    • Activation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
      Activation of the phototransduction cascade, organism-specific biosystemThe photoreceptor cascade starts with light isomerization of 11-cis-retinal (11cRAL) of rhodopsin (RHO) to all-trans-retinal (atRAL), inducing a conformational change in RHO to the active, metarhodop...
    • Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystem (from REACTOME)
      Inactivation, recovery and regulation of the phototransduction cascade, organism-specific biosystemTo terminate the single photon response and restore the system to its basal state, the three activated intermediates in phototransduction, rhodopsin (MII), transducin alpha subunit with GTP bound (GN...
    • Phototransduction, organism-specific biosystem (from KEGG)
      Phototransduction, organism-specific biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
    • Phototransduction, conserved biosystem (from KEGG)
      Phototransduction, conserved biosystemPhototransduction is a biochemical process by which the photoreceptor cells generate electrical signals in response to captured photons. The vertebrate cascade starts with the absorption of photons b...
    • Signal Transduction, organism-specific biosystem (from REACTOME)
      Signal Transduction, organism-specific biosystemSignal transduction is a process in which extracellular signals elicit changes in cell state and activity. Transmembrane receptors sense changes in the cellular environment by binding ligands, such a...
    • The phototransduction cascade, organism-specific biosystem (from REACTOME)
      The phototransduction cascade, organism-specific biosystemThe visual pigment (rhodopsin in rods) consists of an 11-cis-retinal (11cRAL) chromophore covalently attached to a GPCR opsin family member via a Schiff base linkage. Upon photon absorption, 11cRAL i...
    • Visual phototransduction, organism-specific biosystem (from REACTOME)
      Visual phototransduction, organism-specific biosystemVisual phototransduction is the process by which photon absorption by visual pigment molecules in photoreceptor cells is converted to an electrical cellular response. The events in this process are p...
    • Visual signal transduction: Rods, organism-specific biosystem (from Pathway Interaction Database)
      Visual signal transduction: Rods, organism-specific biosystem
      Visual signal transduction: Rods
    Products Interactant Other Gene Complex Source Pubs Description

    Markers

    Homology

    Clone Names

    • DKFZp686D1084, DKFZp686I1383

    Gene Ontology Provided by GOA

    Function Evidence Code Pubs
    opsin binding IEA
    Inferred from Electronic Annotation
    more info
     
    phosphoprotein binding IEA
    Inferred from Electronic Annotation
    more info
     
    protein phosphatase inhibitor activity TAS
    Traceable Author Statement
    more info
    PubMed 
    Process Evidence Code Pubs
    cell surface receptor signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    negative regulation of catalytic activity IEA
    Inferred from Electronic Annotation
    more info
     
    regulation of rhodopsin mediated signaling pathway TAS
    Traceable Author Statement
    more info
     
    rhodopsin mediated signaling pathway TAS
    Traceable Author Statement
    more info
    PubMed 
    visual perception IEA
    Inferred from Electronic Annotation
    more info
     
    Component Evidence Code Pubs
    cytosol TAS
    Traceable Author Statement
    more info
     
    photoreceptor inner segment IEA
    Inferred from Electronic Annotation
    more info
     
    photoreceptor outer segment IEA
    Inferred from Electronic Annotation
    more info
     
    Preferred Names
    S-arrestin
    Names
    48 kDa protein
    arrestin 1
    retinal S-antigen (48 KDa protein)
    rod photoreceptor arrestin

    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    Genomic

    1. NG_009116.1 RefSeqGene

      Range
      5001..44393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. NM_000541.4NP_000532.2  S-arrestin

      See identical proteins and their annotated locations for NP_000532.2

      Status: REVIEWED

      Source sequence(s)
      AC013726, BQ636894, BQ639030, BU734369, DQ980620
      Consensus CDS
      CCDS46545.1
      UniProtKB/Swiss-Prot
      P10523
      Related
      ENSP00000386444, OTTHUMP00000203381, ENST00000409110, OTTHUMT00000330126
      Conserved Domains (2) summary
      smart01017
      Location:203364
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      pfam00339
      Location:26184
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 108 details...

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCh38.p7 Primary Assembly

    Genomic

    1. NC_000002.12 Reference GRCh38.p7 Primary Assembly

      Range
      233307663..233347066
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_017004641.1XP_016860130.1  

    2. XM_017004642.1XP_016860131.1  

    3. XM_017004643.1XP_016860132.1  

    4. XM_011511596.1XP_011509898.1  

      See identical proteins and their annotated locations for XP_011509898.1

      Conserved Domains (1) summary
      smart01017
      Location:69230
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
    5. XM_011511593.2XP_011509895.1  

      See identical proteins and their annotated locations for XP_011509895.1

      Conserved Domains (2) summary
      smart01017
      Location:103264
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      cl22903
      Location:2384
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain
    6. XM_011511594.1XP_011509896.1  

      See identical proteins and their annotated locations for XP_011509896.1

      Conserved Domains (2) summary
      smart01017
      Location:79240
      Arrestin_C; Arrestin (or S-antigen), C-terminal domain
      cl22903
      Location:260
      Arrestin_N; Arrestin (or S-antigen), N-terminal domain

    RNA

    1. XR_001738882.1 RNA Sequence

    2. XR_922980.2 RNA Sequence

    Reference GRCh38.p7 PATCHES

    Genomic

    1. NW_011332690.1 Reference GRCh38.p7 PATCHES

      Range
      253001..292393
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Alternate CHM1_1.1

    Genomic

    1. NC_018913.2 Alternate CHM1_1.1

      Range
      234222389..234261775
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)